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Plos Genetics
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March 21, 2019
A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Brandon L Pierce, Lin Tong, Samantha Dean, et al.
The Journal of Clinical Investigation
|
January 19, 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
Rohit Sharma, Bryn Reinstadler, Kristin Engelstad, et al.
Plos Genetics
|
May 21, 2019
Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Brandon L Pierce, Lin Tong, Samantha Dean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
Derek Wong, Silvia Tortorelli, Lisa Bishop, et al.
Human Pathology
|
March 11, 2023
Mass spectrometry-based assessment of prostate cancer-associated crystalloids reveals enrichment for growth and differentiation factor 15
Burak Tekin, Surendra Dasari, Jason D Theis, et al.
International Journal of Neonatal Screening
|
August 18, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders
Karen A Sanders, Dimitar K Gavrilov, Devin Oglesbee, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.
Journal of Inherited Metabolic Disease
|
July 18, 2020
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study
Muhammad Yasir Qureshi, Marc C Patterson, Vicki Clark, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
Cell Reports
|
April 23, 2020
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
Teun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, et al.
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Search research articles
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Showing results (81-90 of 99) with videos related to
Sort By:
Page
of 10
Plos Genetics
|
March 21, 2019
A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Brandon L Pierce, Lin Tong, Samantha Dean, et al.
The Journal of Clinical Investigation
|
January 19, 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
Rohit Sharma, Bryn Reinstadler, Kristin Engelstad, et al.
Plos Genetics
|
May 21, 2019
Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Brandon L Pierce, Lin Tong, Samantha Dean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
Derek Wong, Silvia Tortorelli, Lisa Bishop, et al.
Human Pathology
|
March 11, 2023
Mass spectrometry-based assessment of prostate cancer-associated crystalloids reveals enrichment for growth and differentiation factor 15
Burak Tekin, Surendra Dasari, Jason D Theis, et al.
International Journal of Neonatal Screening
|
August 18, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders
Karen A Sanders, Dimitar K Gavrilov, Devin Oglesbee, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.
Journal of Inherited Metabolic Disease
|
July 18, 2020
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study
Muhammad Yasir Qureshi, Marc C Patterson, Vicki Clark, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
Cell Reports
|
April 23, 2020
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
Teun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, et al.
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of 10